Eighteen patients with a diagnosis of the Rubinstein-Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were seen personally. The diagnosis was confirmed in 11 patients. Three of these, all women, had died (ages 9, 37, and 52 years) from infections. The remaining 8 were doing well
Psychopathology, GABA, and the Rubinstein-Taybi syndrome: A review and case study
β Scribed by Hellings, Jessica A. ;Hossain, Shaheena ;Martin, Judy K. ;Baratang, Ramil R.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 193 KB
- Volume
- 114
- Category
- Article
- ISSN
- 0148-7299
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In order to evaluate the incidence of cardiac anomalies, type of cardiac defects, and their impact in the Rubinstein-Taybi syndrome (RTS), a questionnaire study was done. Fortyfive of 138 patients in the study (32.6%) had a known cardiac abnormality; 27 patients had single defects including atrial s
I describe an adult female skeleton (#Yo3-96) from the Yokem Mound skeletal series that had microcephaly; mild micrognathia; a broad nasal bridge; orbital hypertelorism; hypoplasia of the first metacarpals; pes planus; anomalies of the cervical spine, ribs, and sternum; and delayed epiphyseal remode